The role of genetic and epigenetic factors in developing polycystic ovary syndrome
Yu. E. Koval,
T. D. Kapyrina,
I. V. Ignatko,
K. R. Bakhtiyarov,
I. I. Gilmutdinova,
E. V. Virivskaya https://doi.org/10.17749/2313-7347/ob.gyn.rep.2026.766
Abstract
Polycystic ovary syndrome (PCOS) is one of the most common endocrine and metabolic disorders in women of reproductive age, affecting health throughout the lifespan. The etiology of this condition includes genetic factors such as polymorphisms of the CYP11A1, CYP17A1, and DENND1A genes-related epigenetic mechanisms (including promoter methylation of genes associated with steroid hormone synthesis and insulin signaling, as well as the role of microRNAs in regulating folliculogenesis and hyperandrogenism), and environmental cues (diet, stress, and exogenous toxins). Together, these mechanisms lead to dysregulated steroidogenesis, hyperandrogenism, anovulation, and insulin resistance, resulting in heterogeneous clinical phenotypes. The aim of this review is to comprehensively analyze current evidence on the role played by genetic and epigenetic factors in PCOS development and to explore potential application of such findings for improving early diagnosis and developing novel therapeutic approaches.
About the Authors
Yu. E. Koval
Sechenov University
Russian Federation
Russian Federation
Yulia E. Koval
8 bldg. 2, Trubetskaya Str., Moscow 119048
T. D. Kapyrina
Sechenov University
Russian Federation
Russian Federation
Tatyana D. Kapyrina, MD
8 bldg. 2, Trubetskaya Str., Moscow 119048
I. V. Ignatko
Sechenov University
Russian Federation
Russian Federation
Irina V. Ignatko, MD, Dr Sci Med, Prof., Corresponding Member of RAS.
Scopus Author ID: 15118951800.
WoS ResearcherID: ABA-6794-2021.
8 bldg. 2, Trubetskaya Str., Moscow 119048
K. R. Bakhtiyarov
Sechenov University
Russian Federation
Russian Federation
Kamil R. Bakhtiyarov, MD, Dr Sci Med, Prof.
Scopus Author ID: 57208396965.
8 bldg. 2, Trubetskaya Str., Moscow 119048
I. I. Gilmutdinova
Sechenov University
Russian Federation
Russian Federation
Ilsina I. Gilmutdinova, MD
8 bldg. 2, Trubetskaya Str., Moscow 119048
E. V. Virivskaya
Turgenev Orеl State University
Russian Federation
Russian Federation
Elena V. Virivskaya, MD, PhD
95 Komsomolskaya Str., Orеl 302026
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Koval Yu.E., Kapyrina T.D., Ignatko I.V., Bakhtiyarov K.R., Gilmutdinova I.I., Virivskaya E.V. The role of genetic and epigenetic factors in developing polycystic ovary syndrome. Obstetrics, Gynecology and Reproduction. (In Russ.) https://doi.org/10.17749/2313-7347/ob.gyn.rep.2026.766
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